1999

  • Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum Molec Genet 1999 8 2387-2396
  • Utkus A, Sorokina I, Kucinskas V, Röthlisberger B, Balmer D, Brecevic L, Schinzel A. Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1). J Med Genet 1999 36 73-76
  • Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. Terminal Deletion, del(1)(p36.3), Detected Through Screening for Terminal Deletions in Patiens With Unclassified Malformation Syndromes. Am J Med Genet 1999 82 249-253
  • Kotzot D. Abnormal Phenotypes in Uniparental Disomy (UPD): Fundamental Aspects and a Critical Review With Bibliography of UPD Other Than 15. Am J Med Genet 1999 82 265-274
  • Kohlhase J, Taschner PEM, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel A, Reardon W, Seemanova E, Engel W. Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome. Am J Hum Genet 1999 64 435-445
  • Guttenbach M, Haaf T, Steinlein C, Caesar J, Schinzel A, Schmid M. Ectopic NORs on human chromosomes 4qter and 8q11: rare chromosomal variants detected in two families. J Med Genet 1999 36 339-342
  • Kozlov SV, Riegel M, Kinter J, Hintsch G, Cinelli P, Schinzel A, Sonderegger P. Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25->q26 by in situ hybridization. Cytogenet Cell Genet 1999 36 339-342
  • Hergersberg M. Das Human-Genom-Projekt. Bio-World 1999 3 2-8
  • Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality - and Tolerance of Segmental Aneuploidy - in Humans. Am J Hum Genet 1999 64 1702-1708
  • Fokstuen S, Ginsburg C, Zachmann M, Schinzel A. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr 1999 134 689-695
  • Röthlisberger B, Kotzot D, Gnehm HPE, Schinzel A. "Essentially Pure" Partial Trisomy (6)(p23->pter) in Two Brothers Due to Maternal t(6;17)(p23;p13.3). Am J Med Genet 1999 85 389-394
  • Bamshad M, Le T, Watkins WS, Dixon MW, Kramer BE, Roeder AD, Carey JC, Root S, Schinzel A, Van Maldergem L, Gardner RJM, Lin RC, Seidmann CE, Seidmann JG, Wallerstein R, Moran E, Sutphen R, Campbell CE. The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationsship in Ulnar-Mammary Syndrome. Am J Hum Genet 1999 64 1550-1562
  • Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chordirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP. Molecular and Clinical Correlation Study of Williams-Beuren Syndrome: No Evidence of Molecular Factors in the Deletion Region or Imprinting Affecting Clinical Outcome. Am J Med Genet 1999 86 34-43
  • Achermann S, Largo R, Kotzot D, Riegel M, Schinzel A. Short Stature, Myopia, Severe Developmental Delay, and Peculiar Facial Appearance in Two Brothers: A new Syndrome? Am J Med Genet 1999 86 486-491
  • Hergersberg M. Das Human-Genom-Projekt: Die Entschlüsselung des menschlichen Erbmaterials. Vierteljahrsschrift der NG Zürich 1999 144/3 113-127
  • Hergersberg M. Chancen und Grenzen der Gentherapie bei familiärer geistiger Behinderung. fraX INFO 1999 5 14-17
  • Laccone F, Engel U, Holinski-Feder E, Weigell-Weber M, Marczinek K, Nolte D, Morris-Rosendahl DJ, Zühlke C, Fuchs K, Weirich-Schwaiger H, Schlüter G, von Beust G, Vieira-Saecker AMM, Weber BHF, Riess O. DNA analysis of Huntington's disease - Five years of experience in Germany, Austria, and Switzerland. Neurology 1999 53 801-806
  • Balmer D, Baumer A, Röthlisberger B, Schinzel A. Severe Intra-uterine Growth Retardation in a Patient with Maternal Uniparental Disomy 22 and a 22-trisomic Placenta. Prenat Diagn 1999 19 1061-1064
  • Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 1999 7 873-883
  • Baumer A, Balmer D, Schinzel A. Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. Hum Genet 1999 105 5098-602
  • Hergersberg M, Aicher M, Wolf U. Der genetzische Fingerabdruck oder der Einsatz der Gentechnik als genealogische Methode. Archiv für Familiengeschichtsforschung 1999 4 278-290